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Autosomal recessive spastic paraplegia type 43
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive spastic paraplegia type 43
Neurodegeneration with brain iron accumulation due to C19orf12 mutation

C19ORF12
(UniProt - OMIM)
 C19ORF12
(UniProt - OMIM)

COMMON
GENES 		C19ORF12


Citations in the biomedical literature:


Autosomal recessive spastic paraplegia type 43
C19ORF12
Neurodegeneration with brain iron accumulation due to C19orf12 mutation



Autosomal recessive spastic paraplegia type 43
Neurodegeneration with brain iron accumulation due to C19orf12 mutation

Synonym(s):
- SPG43
Synonym(s):
- MPAN
- Mitochondrial membrane protein associated neurodegeneration
- NBIA due to C19orf12 mutation
- NBIA5
- Neurodegeneration with brain iron accumulation type 5
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.